A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571547



Internal ID16012270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16127001..16195675hg38UCSC Ensembl
Innerchr16:16220858..16289532hg19UCSC Ensembl
Innerchr16:16128359..16197033hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3868675
hg1968675
hg1868675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150554
SamplesHGDP00515
Known GenesABCC1, ABCC6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571547
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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